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Emma Matthews

Showing results (41-50 of 71) with videos related to

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Neuromuscular Disorders : NMD|July 2, 2013
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotoniasJasper M Morrow, Emma Matthews, Dipa L Raja Rayan, et al.
JCSM Rapid Communications|February 17, 2022
Ageing contributes to phenotype transition in a mouse model of periodic paralysisKaren J Suetterlin, S Veronica Tan, Roope Mannikko, et al.
Neurology. Genetics|July 14, 2017
Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathyEnrico Bugiardini, Alexander M Rossor, David S Lynch, et al.
Brain : a Journal of Neurology|September 16, 2021
Translating genetic and functional data into clinical practice: a series of 223 families with myotoniaKaren Suetterlin, Emma Matthews, Richa Sud, et al.
Neurology|March 22, 2013
Prevalence study of genetically defined skeletal muscle channelopathies in EnglandAlejandro Horga, Dipa L Raja Rayan, Emma Matthews, et al.
Scientific Reports|November 28, 2019
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutationMichael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Castañeda, et al.
Circulation. Genomic and Precision Medicine|November 16, 2020
Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative <i>CALM1-3</i> Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death VictimsDaniel J Clemens, Belinda Gray, Richard D Bagnall, et al.
Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Neuromuscular Disorders : NMD|July 2, 2013
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotoniasJasper M Morrow, Emma Matthews, Dipa L Raja Rayan, et al.
JCSM Rapid Communications|February 17, 2022
Ageing contributes to phenotype transition in a mouse model of periodic paralysisKaren J Suetterlin, S Veronica Tan, Roope Mannikko, et al.
Neurology. Genetics|July 14, 2017
Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathyEnrico Bugiardini, Alexander M Rossor, David S Lynch, et al.
Brain : a Journal of Neurology|September 16, 2021
Translating genetic and functional data into clinical practice: a series of 223 families with myotoniaKaren Suetterlin, Emma Matthews, Richa Sud, et al.
Neurology|March 22, 2013
Prevalence study of genetically defined skeletal muscle channelopathies in EnglandAlejandro Horga, Dipa L Raja Rayan, Emma Matthews, et al.
Scientific Reports|November 28, 2019
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutationMichael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Castañeda, et al.
Circulation. Genomic and Precision Medicine|November 16, 2020
Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative <i>CALM1-3</i> Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death VictimsDaniel J Clemens, Belinda Gray, Richard D Bagnall, et al.
Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
Pageof 8